Dp71 – The most abundant non-muscle product of the Dystrophin gene
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1
The Weizmann Institute, Department of Mol. Cell Biology, Israel
The huge gene encoding Dystrophin, the protein that is defective or missing in Duchenne and Baker Muscular Dystrophies, was considered in early studies a muscle specific gene. However, we have found that the dystrophin gene is also expressed in other tissues, including brain. The main product in the brain, and most other non-muscle tissues, is a relatively small membrane associated protein of 71 KD that we named Dp71. Dp71 is also expressed in a much regulated pattern during embryogenesis. The production of Dp71 is controlled by an internal promoter located in intron 62 of the huge gene.Dp71 consists of the C-terminal region of dystrophin but lacks the entire spectrin like repeats and the N-terminal actin bindingdomains. Later studies discovered additional three small products of the gene–Dp116, Dp140 and Dp260, consisting of the C-terminal and the cysteine rich domains of dystrophin and various extensions into the spectrin like repeats region.
The complex structure of the dystrophin gene is highly conserved during the evolution; multiple products are encoded by the dystrophin like genes in distantly related organisms and by the closely related gene encoding utropin. This indicated the importance of the truncated dystrophin gene products and their unique functions. Indeed, studies in a number of labs indicated cell type specificity of the small products. Lack of Dp71 seems to be involved in mental retardation in human and in impaired learning capacity in Dp71 null mice.
Dp71 is not expressed in the muscle; ectopic expression of Dp71 in skeletal muscles results in a muscular dystrophy like phenotype, suggesting a competitive inhibition of membrane binding of dystrophin.
Keywords:
Dystrophin,
Dp71,
Duchenne and Baker Muscular Dystrophies,
71 KD,
Spectrin
Conference:
4th Conference of the Mediterrarnean Neuroscience Society, Istanbul, Türkiye, 30 Sep - 3 Oct, 2012.
Presentation Type:
Symposium
Topic:
Abstracts
Citation:
Yaffe
D and
Nudel
U
(2013). Dp71 – The most abundant non-muscle product of the Dystrophin gene.
Conference Abstract:
4th Conference of the Mediterrarnean Neuroscience Society.
doi: 10.3389/conf.fnhum.2013.210.00072
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Received:
04 Apr 2013;
Published Online:
11 Apr 2013.
*
Correspondence:
Dr. David Yaffe, The Weizmann Institute, Department of Mol. Cell Biology, Rehovot, Israel, david.yaffe@weizmann.ac.il